ClinVar for MedGen (Select 91000) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 273

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246867	NC_000003.11:g.(?_48895920)_(48897080_?)dup	SLC25A20	Duplication	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3246866	NC_000003.11:g.(?_48921410)_(48921577_?)dup	SLC25A20	Duplication	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3246865	NC_000003.11:g.(?_48895143)_(48897080_?)del	SLC25A20	Deletion	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 3246864	NC_000003.11:g.(?_48895920)_(49570632_?)del	AMT, ARIH2 +23 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GPathogenic
Select item 3246863	NC_000003.11:g.(?_48929393)_(48936227_?)del	SLC25A20	Deletion	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 3246861	NC_000003.11:g.(?_48921410)_(48921577_?)del	SLC25A20	Deletion	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 3246860	NC_000003.11:g.(?_48895143)_(49213234_?)del	ARIH2, ARIH2OS +13 more	Deletion	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 3240488	NM_000387.6(SLC25A20):c.297del (p.Gln100fs)	SLC25A20 (Q100fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3240487	NM_000387.6(SLC25A20):c.608+2T>C	SLC25A20	Single nucleotide variant (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3240486	NM_000387.6(SLC25A20):c.500del (p.Gly167fs)	SLC25A20 (G167fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 3021547	NM_000387.6(SLC25A20):c.109C>T (p.Arg37Ter)	SLC25A20 (R37*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 3020950	NM_000387.6(SLC25A20):c.129G>A (p.Pro43=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3016642	NM_000387.6(SLC25A20):c.843+20G>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GBenign
Select item 3011714	NM_000387.6(SLC25A20):c.326+15G>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3011441	NM_000387.6(SLC25A20):c.106-11T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3010093	NM_000387.6(SLC25A20):c.418-8C>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3009589	NM_000387.6(SLC25A20):c.90T>G (p.Pro30=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 3008625	NM_000387.6(SLC25A20):c.72G>T (p.Leu24=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2998717	NM_000387.6(SLC25A20):c.718+12G>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2998031	NM_000387.6(SLC25A20):c.402C>T (p.Ile134=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2996682	NM_000387.6(SLC25A20):c.199-14G>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2991203	NM_000387.6(SLC25A20):c.516T>C (p.Thr172=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2989230	NM_000387.6(SLC25A20):c.244del (p.Val82fs)	SLC25A20 (V82fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2988688	NM_000387.6(SLC25A20):c.612C>T (p.Val204=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2987815	NM_000387.6(SLC25A20):c.183G>A (p.Lys61=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2981788	NM_000387.6(SLC25A20):c.198+7A>G	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2972720	NM_000387.6(SLC25A20):c.363C>T (p.Gly121=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2971204	NM_000387.6(SLC25A20):c.199-6T>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2970640	NM_000387.6(SLC25A20):c.901T>C (p.Leu301=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2970543	NM_000387.6(SLC25A20):c.288G>A (p.Gly96=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency +1 more	GLikely benign
Select item 2970301	NM_000387.6(SLC25A20):c.719-5C>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2968316	NM_000387.6(SLC25A20):c.261C>T (p.Ala87=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2956298	NM_000387.6(SLC25A20):c.327-20G>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2955112	NM_000387.6(SLC25A20):c.326+11A>G	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2954997	NM_000387.6(SLC25A20):c.326+8C>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2918004	NM_000387.6(SLC25A20):c.301C>T (p.Gln101Ter)	SLC25A20 (Q101*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2897813	NM_000387.6(SLC25A20):c.600G>A (p.Glu200=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2895760	NM_000387.6(SLC25A20):c.715A>G (p.Thr239Ala)	SLC25A20 (T239A)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 2894019	NM_000387.6(SLC25A20):c.306_315del (p.His103fs)	SLC25A20 (H103fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2893178	NM_000387.6(SLC25A20):c.411A>G (p.Leu137=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2892342	NM_000387.6(SLC25A20):c.30G>A (p.Pro10=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2887092	NM_000387.6(SLC25A20):c.105+18G>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2882395	NM_000387.6(SLC25A20):c.213A>G (p.Leu71=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2879918	NM_000387.6(SLC25A20):c.536-13_536-3del	SLC25A20	Deletion (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2878707	NM_000387.6(SLC25A20):c.106-8G>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2871198	NM_000387.6(SLC25A20):c.415C>T (p.Gln139Ter)	SLC25A20 (Q139*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2864344	NM_000387.6(SLC25A20):c.540C>G (p.Val180=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2862419	NM_000387.6(SLC25A20):c.492G>C (p.Gly164=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2861659	NM_000387.6(SLC25A20):c.899A>G (p.Asn300Ser)	SLC25A20 (N300S)	Single nucleotide variant (missense variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 2860718	NM_000387.6(SLC25A20):c.106-20A>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2859192	NM_000387.6(SLC25A20):c.609-14T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2851643	NM_000387.6(SLC25A20):c.363C>G (p.Gly121=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2851242	NM_000387.6(SLC25A20):c.609-19T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2847648	NM_000387.6(SLC25A20):c.861T>C (p.Phe287=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2845583	NM_000387.6(SLC25A20):c.432A>C (p.Ser144=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2842850	NM_000387.6(SLC25A20):c.201C>T (p.Gly67=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2842438	NM_000387.6(SLC25A20):c.525C>T (p.Thr175=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2842375	NM_000387.6(SLC25A20):c.199-5del	SLC25A20	Deletion (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2841658	NM_000387.6(SLC25A20):c.294A>G (p.Lys98=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2840955	NM_000387.6(SLC25A20):c.105+15G>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2838550	NM_000387.6(SLC25A20):c.51C>A (p.Gly17=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2823995	NM_000387.6(SLC25A20):c.654T>A (p.Ile218=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2822351	NM_000387.6(SLC25A20):c.211del (p.Leu71fs)	SLC25A20 (L71fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2813880	NM_000387.6(SLC25A20):c.486G>A (p.Glu162=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2813053	NM_000387.6(SLC25A20):c.106-4T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2805560	NM_000387.6(SLC25A20):c.198G>A (p.Glu66=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GUncertain significance
Select item 2794711	NM_000387.6(SLC25A20):c.106-7T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2790312	NM_000387.6(SLC25A20):c.199-7C>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2787313	NM_000387.6(SLC25A20):c.729del (p.Lys244fs)	SLC25A20 (K244fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2785107	NM_000387.6(SLC25A20):c.706C>A (p.Arg236=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2783828	NM_000387.6(SLC25A20):c.844-12A>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2782335	NM_000387.6(SLC25A20):c.237C>T (p.Ile79=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2781289	NM_000387.6(SLC25A20):c.394G>T (p.Glu132Ter)	SLC25A20 (E132*)	Single nucleotide variant (nonsense)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2780833	NM_000387.6(SLC25A20):c.199-20G>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2780367	NM_000387.6(SLC25A20):c.453T>C (p.Gly151=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2780024	NM_000387.6(SLC25A20):c.417+1G>A	SLC25A20	Single nucleotide variant (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 2777892	NM_000387.6(SLC25A20):c.297A>G (p.Leu99=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2772930	NM_000387.6(SLC25A20):c.609-5T>C	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2771088	NM_000387.6(SLC25A20):c.738T>C (p.Pro246=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2765779	NM_000387.6(SLC25A20):c.375A>G (p.Thr125=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2765426	NM_000387.6(SLC25A20):c.408C>T (p.Cys136=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2764305	NM_000387.6(SLC25A20):c.417+9G>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2764207	NM_000387.6(SLC25A20):c.159T>C (p.Ser53=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2759046	NM_000387.6(SLC25A20):c.171C>T (p.Asp57=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2757619	NM_000387.6(SLC25A20):c.519G>C (p.Val173=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2754617	NM_000387.6(SLC25A20):c.718+12G>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2751691	NM_000387.6(SLC25A20):c.170_173del (p.Asp57fs)	SLC25A20 (D57fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2751509	NM_000387.6(SLC25A20):c.105+8A>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2744187	NM_000387.6(SLC25A20):c.326+1G>C	SLC25A20	Single nucleotide variant (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GLikely pathogenic
Select item 2743558	NM_000387.6(SLC25A20):c.816G>A (p.Val272=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2740814	NM_000387.6(SLC25A20):c.882T>C (p.Leu294=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2737395	NM_000387.6(SLC25A20):c.844-5C>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2734533	NM_000387.6(SLC25A20):c.180del (p.Lys61fs)	SLC25A20 (K61fs)	Deletion (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2734532	NM_000387.6(SLC25A20):c.718+1G>C	SLC25A20	Single nucleotide variant (splice donor variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2729645	NM_000387.6(SLC25A20):c.1A>G (p.Met1Val)	SLC25A20 (M1V)	Single nucleotide variant (missense variant +1 more)	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2723682	NM_000387.6(SLC25A20):c.198+19G>T	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2721308	NM_000387.6(SLC25A20):c.240C>T (p.Ile80=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2716963	NM_000387.6(SLC25A20):c.418-14C>A	SLC25A20	Single nucleotide variant (intron variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2709961	NM_000387.6(SLC25A20):c.99G>T (p.Thr33=)	SLC25A20	Single nucleotide variant (synonymous variant)	Carnitine acylcarnitine translocase deficiency	GLikely benign
Select item 2705051	NM_000387.6(SLC25A20):c.510_514dup (p.Thr172fs)	SLC25A20 (T172fs)	Duplication (frameshift variant)	Carnitine acylcarnitine translocase deficiency	GPathogenic

<< First< Prev

Page of 3